title: Genetic differences between primary larynx and pharynx carcinomas and their matched lymph node metastases by multiplex ligation-dependent probe amplification.
abstract: Lymph nodes metastasis is a major risk factor related to poor survival in larynx and pharynx carcinomas. The aim of this study is to search for markers of lymph node involvement analyzing the genetic differences between primary larynx and pharynx squamous cell carcinomas and their corresponding lymph node metastases. Twenty-five primary tumors and their corresponding lymph node metastases were examined. DNA copy number changes of 37 genes were analyzed by multiplex ligation-dependent probe amplification (MLPA). Loss of CDKN2A (9p21) occurred in 14 out of 25 pairs (56%) of primary tumor and lymph node metastases. Loss of LMNA (1q21) was exclusively detected in 8 lymph node samples (32%). Loss of CTNNB1 (3p22) and gain of CDKN2D (19p13) were also significantly more frequent in lymph node metastases. Other aberrations related to lymph node metastases were loss of MFHAS1 (8p23), RECQL4 (8q24) and gain of N33 (8p22) and TP53 (17p13). Primary tumor and corresponding lymph node metastases showed common genetic changes. However, the lymph node metastases presented with a number of additional alterations. Acquisition of these alterations may play a role in lymphatic metastasis development.
authors.affiliation: Department of Otorhinolaryngology, IUOPA, Hospital Universitario Central de Asturias, Celestino Villamil s/n, 33006 Oviedo, Asturias, Spain. maguervos@yahoo.es
authors.forename: Marta
authors.initials: M
authors.lastname: Alonso Guervós
authors.forename: César
authors.initials: C
authors.lastname: Alvarez Marcos
authors.forename: José Luis
authors.initials: JL
authors.lastname: Llorente
authors.forename: Andrés
authors.initials: A
authors.lastname: Sampedro Nuño
authors.forename: Carlos
authors.initials: C
authors.lastname: Suárez
authors.forename: Mario
authors.initials: M
authors.lastname: Hermsen
mesh_terms: D000368:Aged; D002294:Carcinoma, Squamous Cell / Q000235:genetics* / Q000556:secondary*; D056915:DNA Copy Number Variations; D006801:Humans; D007822:Laryngeal Neoplasms / Q000235:genetics* / Q000473:pathology; D007830:Larynx / Q000473:pathology; D008198:Lymph Nodes / Q000473:pathology; D008207:Lymphatic Metastasis; D008297:Male; D008875:Middle Aged; D010610:Pharyngeal Neoplasms / Q000235:genetics* / Q000473:pathology; D010614:Pharynx / Q000473:pathology